Mutagenetix > Incidental Mutation

Incidental Mutation 'R0088:Rabggtb'

19995

Institutional Source

Beutler Lab

Gene Symbol

Rabggtb

Ensembl Gene

ENSMUSG00000038975

Gene Name

Rab geranylgeranyl transferase, b subunit

Synonyms

MMRRC Submission

038375-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R0088 (G1)

Quality Score

200

Status

Validated (trace)

Chromosome

Chromosomal Location

153612926-153618603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153614467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 230 (R230L)

Ref Sequence

ENSEMBL: ENSMUSP00000129481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005630] [ENSMUST00000089950] [ENSMUST00000167111] [ENSMUST00000188338] [ENSMUST00000200631] [ENSMUST00000196956] [ENSMUST00000196266] [ENSMUST00000197438] [ENSMUST00000190449] [ENSMUST00000196565] [ENSMUST00000200209]

AlphaFold

P53612

PDB Structure

Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS3 and lipid substrate GGPP [X-RAY DIFFRACTION]
Crystal structure of RabGGTase(DELTA LRR; DELTA IG) in Complex with BMS-analogue 14 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000005630

SMART Domains

Protein: ENSMUSP00000005630
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
low complexity region	91	107	N/A	INTRINSIC
Pfam:MutS_II	177	321	2.3e-20	PFAM
MUTSd	352	679	3.77e-37	SMART
MUTSac	695	888	1.6e-81	SMART
Blast:MUTSac	912	956	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083804

Predicted Effect

probably damaging
Transcript: ENSMUST00000089950
AA Change: R222L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087396
Gene: ENSMUSG00000038975
AA Change: R222L

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	66	109	3e-11	PFAM
Pfam:Prenyltrans_2	72	183	1.1e-19	PFAM
Pfam:Prenyltrans	114	157	2.2e-14	PFAM
Pfam:Prenyltrans_1	116	214	1.7e-9	PFAM
Pfam:Prenyltrans	162	205	8.1e-18	PFAM
Pfam:Prenyltrans	210	253	3.1e-15	PFAM
Pfam:Prenyltrans	258	302	3.3e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167111
AA Change: R230L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129481
Gene: ENSMUSG00000038975
AA Change: R230L

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	117	5.9e-12	PFAM
Pfam:Prenyltrans	122	165	8.4e-15	PFAM
Pfam:Prenyltrans	170	213	2.2e-18	PFAM
Pfam:Prenyltrans	218	261	1.2e-15	PFAM
Pfam:Prenyltrans	266	310	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188338

SMART Domains

Protein: ENSMUSP00000140190
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
Pfam:MutS_II	89	233	5.3e-19	PFAM
MUTSd	264	591	9.4e-40	SMART
MUTSac	607	800	4.2e-84	SMART
Blast:MUTSac	808	866	4e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197147

Predicted Effect

probably benign
Transcript: ENSMUST00000200631

SMART Domains

Protein: ENSMUSP00000142999
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	112	5.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196956

SMART Domains

Protein: ENSMUSP00000143458
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	117	2e-9	PFAM
Pfam:Prenyltrans_2	80	191	3.8e-18	PFAM
Pfam:Prenyltrans	122	165	1.4e-12	PFAM
Pfam:Prenyltrans_1	124	202	4.8e-7	PFAM
Pfam:Prenyltrans	170	201	9.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196266

SMART Domains

Protein: ENSMUSP00000142682
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans_2	32	143	9e-10	PFAM
Pfam:Prenyltrans	74	117	8.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198094

Predicted Effect

probably benign
Transcript: ENSMUST00000197438

SMART Domains

Protein: ENSMUSP00000143551
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	74	112	1.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198350

Predicted Effect

probably benign
Transcript: ENSMUST00000190449

SMART Domains

Protein: ENSMUSP00000140265
Gene: ENSMUSG00000005493

Domain	Start	End	E-Value	Type
Pfam:MutS_II	1	127	3.3e-15	PFAM
MUTSd	158	485	9.4e-40	SMART
MUTSac	501	694	4.2e-84	SMART
Blast:MUTSac	702	760	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000196565

SMART Domains

Protein: ENSMUSP00000143258
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197829

Predicted Effect

probably benign
Transcript: ENSMUST00000200209

SMART Domains

Protein: ENSMUSP00000143452
Gene: ENSMUSG00000038975

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans_2	32	143	9e-10	PFAM
Pfam:Prenyltrans	74	117	8.4e-12	PFAM

Meta Mutation Damage Score

0.9392

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

82% (32/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	T	C	8: 25,404,083 (GRCm39)	K243R	probably damaging	Het
Akap9	C	A	5: 4,011,946 (GRCm39)	T883K	probably benign	Het
Arhgap5	G	T	12: 52,563,331 (GRCm39)	D101Y	probably damaging	Het
Bnc1	T	G	7: 81,628,246 (GRCm39)	N39T	possibly damaging	Het
Carnmt1	T	A	19: 18,655,217 (GRCm39)	H123Q	probably benign	Het
Cdh24	T	C	14: 54,871,171 (GRCm39)	D92G	probably damaging	Het
Eomes	A	G	9: 118,307,741 (GRCm39)	E5G	probably damaging	Het
Eqtn	T	C	4: 94,808,227 (GRCm39)	T192A	probably damaging	Het
Fam110c	T	C	12: 31,125,217 (GRCm39)	V393A	probably damaging	Het
Fbll1	C	A	11: 35,688,967 (GRCm39)	A99S	possibly damaging	Het
Il1rl2	A	T	1: 40,404,213 (GRCm39)	I445F	possibly damaging	Het
Ipo8	T	C	6: 148,703,434 (GRCm39)	T400A	probably benign	Het
Iqsec3	T	C	6: 121,450,248 (GRCm39)	E92G	probably damaging	Het
Itpr2	C	T	6: 146,142,683 (GRCm39)	V1679M	probably benign	Het
Kif2a	G	A	13: 107,111,940 (GRCm39)	A478V	probably damaging	Het
Lingo4	A	G	3: 94,309,340 (GRCm39)	S93G	probably benign	Het
Mrpl37	A	G	4: 106,921,621 (GRCm39)	S203P	possibly damaging	Het
Ndel1	A	C	11: 68,724,246 (GRCm39)	S242R	probably damaging	Het
Nfatc3	T	A	8: 106,854,574 (GRCm39)	M1036K	possibly damaging	Het
Ngrn	T	C	7: 79,914,203 (GRCm39)	I118T	probably damaging	Het
Or10d5	A	G	9: 39,861,671 (GRCm39)	V132A	probably benign	Het
Pex10	A	T	4: 155,154,955 (GRCm39)	S236C	probably damaging	Het
Phkb	T	G	8: 86,669,020 (GRCm39)		probably null	Het
Pklr	A	G	3: 89,049,215 (GRCm39)	Y187C	probably damaging	Het
Plekhh1	A	C	12: 79,102,140 (GRCm39)	E403D	probably benign	Het
Pls1	T	C	9: 95,677,821 (GRCm39)	K22E	possibly damaging	Het
Prdm2	G	A	4: 142,861,524 (GRCm39)	H589Y	possibly damaging	Het
Rsph4a	A	G	10: 33,785,349 (GRCm39)	E420G	probably benign	Het
Sdk2	T	C	11: 113,717,912 (GRCm39)	N1484S	possibly damaging	Het
St8sia3	T	A	18: 64,400,056 (GRCm39)	V17E	possibly damaging	Het
Sult6b2	T	A	6: 142,743,675 (GRCm39)	N117I	probably damaging	Het
Thbs2	T	C	17: 14,901,963 (GRCm39)	T422A	possibly damaging	Het
Tmem266	A	G	9: 55,344,613 (GRCm39)	D415G	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttyh2	G	T	11: 114,581,081 (GRCm39)	G107C	probably damaging	Het
Ubr4	A	G	4: 139,168,125 (GRCm39)	D2835G	probably damaging	Het
Zranb3	T	C	1: 127,904,199 (GRCm39)	D540G	probably benign	Het

Other mutations in Rabggtb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Rabggtb	APN	3	153,615,896 (GRCm39)	critical splice donor site	probably null
IGL01939:Rabggtb	APN	3	153,617,650 (GRCm39)	missense	probably damaging	0.98
R0348:Rabggtb	UTSW	3	153,615,954 (GRCm39)	missense	probably damaging	1.00
R3883:Rabggtb	UTSW	3	153,616,417 (GRCm39)	missense	probably damaging	1.00
R4884:Rabggtb	UTSW	3	153,617,568 (GRCm39)	missense	possibly damaging	0.66
R5220:Rabggtb	UTSW	3	153,615,024 (GRCm39)	missense	probably damaging	1.00
R7090:Rabggtb	UTSW	3	153,615,986 (GRCm39)	missense	probably benign	0.01
R7996:Rabggtb	UTSW	3	153,617,605 (GRCm39)	missense	probably damaging	1.00
R9381:Rabggtb	UTSW	3	153,613,817 (GRCm39)	missense	probably damaging	1.00
Z1177:Rabggtb	UTSW	3	153,613,322 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCCTTTCTCACAAAGCAAGCTCC -3'
(R):5'- GCATTCCACTGTCGCATTGAACC -3'

Sequencing Primer
(F):5'- agacttcttgcctgtgcc -3'
(R):5'- CTGTCGCATTGAACCTACTAATAC -3'

Posted On

2013-04-11